Canonical Allele Identifier: PA916022930
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49896
ClinVar RCV Id: RCV000043163 RCV000478154
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Cys44Arg
CA022889
NM_001318831.2:c.130T>C